LOCUS       NM_020007               5673 bp    mRNA    linear   ROD 19-NOV-2024
DEFINITION  Mus musculus muscleblind like splicing regulator 1 (Mbnl1),
            transcript variant 1, mRNA.
ACCESSION   NM_020007 XM_977465
VERSION     NM_020007.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 5673)
  AUTHORS   Piasecka,A., Szczesniak,M.W., Sekrecki,M., Kajdasz,A.,
            Sznajder,L.J., Baud,A. and Sobczak,K.
  TITLE     MBNL splicing factors regulate the microtranscriptome of skeletal
            muscles
  JOURNAL   Nucleic Acids Res 52 (19), 12055-12073 (2024)
   PUBMED   39258536
REFERENCE   2  (bases 1 to 5673)
  AUTHORS   Bailey,L.R.J., Bugg,D., Reichardt,I.M., Ortac,C.D., Nagle,A.,
            Gunaje,J., Martinson,A., Johnson,R., MacCoss,M.J., Sakamoto,T.,
            Kelly,D.P., Regnier,M. and Davis,J.
  TITLE     MBNL1 Regulates Programmed Postnatal Switching Between Regenerative
            and Differentiated Cardiac States
  JOURNAL   Circulation 149 (23), 1812-1829 (2024)
   PUBMED   38426339
  REMARK    GeneRIF: MBNL1 Regulates Programmed Postnatal Switching Between
            Regenerative and Differentiated Cardiac States.
REFERENCE   3  (bases 1 to 5673)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   4  (bases 1 to 5673)
  AUTHORS   Yadava,R.S., Mandal,M. and Mahadevan,M.S.
  TITLE     Studying the Effect of MBNL1 and MBNL2 Loss in Skeletal Muscle
            Regeneration
  JOURNAL   Int J Mol Sci 25 (5), 2687 (2024)
   PUBMED   38473933
  REMARK    GeneRIF: Studying the Effect of MBNL1 and MBNL2 Loss in Skeletal
            Muscle Regeneration.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5673)
  AUTHORS   Jung,S., Shah,S., Han,G. and Richter,J.D.
  TITLE     FMRP deficiency leads to multifactorial dysregulation of splicing
            and mislocalization of MBNL1 to the cytoplasm
  JOURNAL   PLoS Biol 21 (12), e3002417 (2023)
   PUBMED   38048343
  REMARK    GeneRIF: FMRP deficiency leads to multifactorial dysregulation of
            splicing and mislocalization of MBNL1 to the cytoplasm.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5673)
  AUTHORS   Kanadia,R.N., Johnstone,K.A., Mankodi,A., Lungu,C., Thornton,C.A.,
            Esson,D., Timmers,A.M., Hauswirth,W.W. and Swanson,M.S.
  TITLE     A muscleblind knockout model for myotonic dystrophy
  JOURNAL   Science 302 (5652), 1978-1980 (2003)
   PUBMED   14671308
  REMARK    GeneRIF: results show that disruption of the mouse Mbnl1 gene leads
            to muscle, eye, and RNA splicing abnormalities that are
            characteristic of myotonic dystrophy disease
REFERENCE   7  (bases 1 to 5673)
  AUTHORS   Kanadia,R.N., Urbinati,C.R., Crusselle,V.J., Luo,D., Lee,Y.J.,
            Harrison,J.K., Oh,S.P. and Swanson,M.S.
  TITLE     Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2
            and Mbnl3
  JOURNAL   Gene Expr Patterns 3 (4), 459-462 (2003)
   PUBMED   12915312
REFERENCE   8  (bases 1 to 5673)
  AUTHORS   Okazaki,N., Kikuno,R., Ohara,R., Inamoto,S., Hara,Y., Nagase,T.,
            Ohara,O. and Koga,H.
  TITLE     Prediction of the coding sequences of mouse homologues of KIAA
            gene: I. The complete nucleotide sequences of 100 mouse
            KIAA-homologous cDNAs identified by screening of terminal sequences
            of cDNA clones randomly sampled from size-fractionated libraries
  JOURNAL   DNA Res 9 (5), 179-188 (2002)
   PUBMED   12465718
REFERENCE   9  (bases 1 to 5673)
  AUTHORS   Piao,Y., Ko,N.T., Lim,M.K. and Ko,M.S.
  TITLE     Construction of long-transcript enriched cDNA libraries from
            submicrogram amounts of total RNAs by a universal PCR amplification
            method
  JOURNAL   Genome Res 11 (9), 1553-1558 (2001)
   PUBMED   11544199
REFERENCE   10 (bases 1 to 5673)
  AUTHORS   Miller,J.W., Urbinati,C.R., Teng-Umnuay,P., Stenberg,M.G.,
            Byrne,B.J., Thornton,C.A. and Swanson,M.S.
  TITLE     Recruitment of human muscleblind proteins to (CUG)(n) expansions
            associated with myotonic dystrophy
  JOURNAL   EMBO J 19 (17), 4439-4448 (2000)
   PUBMED   10970838
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CJ101600.1, CN667515.1, AC113007.11, AK153827.1, AC121309.10 and
            BP761861.1.
            
            On Jul 15, 2015 this sequence version replaced NM_020007.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB093240.1, SRR10223970.5122.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-256               CJ101600.1         2-257
            257-627             CN667515.1         176-546
            628-1294            AC113007.11        25553-26219         c
            1295-4105           AK153827.1         66-2876
            4106-5155           AC121309.10        83280-84329
            5156-5673           BP761861.1         1-518               c
FEATURES             Location/Qualifiers
     source          1..5673
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="3"
                     /map="3 29.17 cM"
     gene            1..5673
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /note="muscleblind like splicing regulator 1"
                     /db_xref="GeneID:56758"
                     /db_xref="MGI:MGI:1928482"
     exon            1..245
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /inference="alignment:Splign:2.1.0"
     exon            246..1294
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /inference="alignment:Splign:2.1.0"
     CDS             1121..2266
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /note="isoform 1 is encoded by transcript variant 1;
                     muscleblind-like protein 1; triplet-expansion RNA-binding
                     protein; muscleblind-like 1; muscleblind like splicing
                     factor 1"
                     /codon_start=1
                     /product="muscleblind-like protein 1 isoform 1"
                     /protein_id="NP_064391.2"
                     /db_xref="CCDS:CCDS17376.1"
                     /db_xref="GeneID:56758"
                     /db_xref="MGI:MGI:1928482"
                     /translation="MAVSVTPIRDTKWLTLEVCREFQRGTCSRPDTECKFAHPSKSCQ
                     VENGRVIACFDSLKGRCSRENCKYLHPPPHLKTQLEINGRNNLIQQKNMAMLAQQMQL
                     ANAMMPGAPLQPVPMFSVAPSLATSASAAFNPYLGPVSPSLVPAEILPTAPMLVTGNP
                     GVPVPAAAAAAAQKLMRTDRLEVCREYQRGNCNRGENDCRFAHPADSTMIDTNDNTVT
                     VCMDYIKGRCSREKCKYFHPPAHLQAKIKAAQYQVNQAAAAQAAATAAAMGIPQAVLP
                     PLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPGSILCMTPATSVVPM
                     VHGATPATVSAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQM"
     exon            1295..1465
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /inference="alignment:Splign:2.1.0"
     exon            1466..1666
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /inference="alignment:Splign:2.1.0"
     exon            1667..1924
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /inference="alignment:Splign:2.1.0"
     exon            1925..2078
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /inference="alignment:Splign:2.1.0"
     exon            2079..2114
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /inference="alignment:Splign:2.1.0"
     exon            2115..2209
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /inference="alignment:Splign:2.1.0"
     exon            2210..2284
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /inference="alignment:Splign:2.1.0"
     exon            2285..5655
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5630..5635
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /note="hexamer: AATAAA"
     polyA_site      5653
                     /gene="Mbnl1"
                     /gene_synonym="Mbnl; mKIAA0428"
                     /note="major polyA site"
ORIGIN      
        1 ttcctggcgg ggctggcgcg ggggaggggc cgcgcagcgg cggaaaccgg cgcgcggcga
       61 taagaggctg cacggcgaca tgccacagtc tctcgccgca gcccgtcgag tcggggcgct
      121 cgccatgctc ccgtgacccg gacccggcca gttccctttc ccgtggcggg catcccggag
      181 tcgcgatccc acaatgcccc gggcagtcgg ggccccggcg ggcagcctgc acggccacgt
      241 gagaggttgg tactaagaag tgcctttcct gacgtctctg ctgcttggaa ccgcttctag
      301 agcagcctct gcttttgcct tgcttgctgc cagctagact gacgacagca catccgccct
      361 ccacctctag cccagacacc ccatttctac ttctaatcag gagaaaagct ctgagtatct
      421 gccattgccc taggctgctt tagtttagaa gaaaagtttg ctgaaaaagt aagatacctt
      481 ctgccaggaa atcaaggagg aaaaaaaaaa atcattttct cgattttgct ctaaactgct
      541 gcatctgtct atgccaaact aatcaatacc gattgcacca ccaaactcca tcgcaaatca
      601 gctgtgagga gattccctgt cagacaactt tgctgaaagc agcttggaaa ttcggtgtca
      661 aagggtctgc cacgttttca tgcttgcatt ttgggctcca aattggcact gggaaggggt
      721 tactgagcac acggctgagt ccaggcctcc tctaaacacc catctactta cagtcctggt
      781 attcctctca aaaccaaaac ctctttgaat taacagtttc atgctgtgaa tttctagcgg
      841 aggtctttcc ctttatattg aagtcacact tttccatgtg ccgttaaatc ggggacgggg
      901 gaagcagcct ttcggacatt ttcacagtta tctcacactc tgagttttat cagttcctat
      961 tttgtttagt ttttgtcttt tgttttggtt gctgattttt tttctatttt tctttttctt
     1021 ttctttttgt tttttccttt tttttttttt tttttttttt ttggagaggg gttggatttg
     1081 ttggtttcat taaacattta actacctgta aaatataaac atggctgtta gtgtcacacc
     1141 aattcgggac acaaaatggc taacactgga agtatgtaga gagtttcaaa gggggacttg
     1201 ctcacgacca gacacggaat gtaaatttgc acatccttcg aaaagctgcc aagttgaaaa
     1261 tggacgagta atcgcctgct ttgattcact gaaaggtcgt tgctccagag agaactgcaa
     1321 atatcttcat ccacccccac acttaaaaac acagttagag ataaatgggc ggaataactt
     1381 gattcagcag aagaacatgg ccatgctggc ccagcaaatg cagttagcca atgccatgat
     1441 gcccggtgcc ccgttgcagc ccgtgccaat gttttcagtt gcaccaagct tagccaccag
     1501 tgcatcagca gcctttaacc cttacctggg gcctgtttcc ccaagcctgg ttccagcaga
     1561 gatcttgccg actgcaccaa tgttggtcac ggggaatcct ggagttccag tgccagcagc
     1621 tgccgcagct gctgcacaga agttaatgcg gacagacaga ctggaggtgt gtcgagagta
     1681 ccagcgtggc aattgcaaca gaggagaaaa tgactgtcgg tttgctcatc ctgctgacag
     1741 cacaatgatt gataccaatg acaacacagt cactgtctgc atggattaca tcaaggggag
     1801 atgctctcgg gaaaagtgca aatacttcca tcctcccgca cacctgcaag ccaagatcaa
     1861 ggctgcccaa taccaggtca accaggctgc agcagcacag gctgcagcta ctgcagctgc
     1921 catgggaatt cctcaagctg tacttccccc attgccaaag aggcctgctc ttgaaaaaac
     1981 caacggtgcc accgcagtct ttaacactgg tattttccaa taccaacagg ctctagccaa
     2041 catgcagtta cagcagcata cagcatttct cccaccaggc tcaatattgt gcatgacacc
     2101 cgctacaagt gttgttccca tggtgcacgg tgctacgcca gccactgtgt ccgcagcaac
     2161 aacatctgcc acaagtgttc ccttcgctgc aacagccaca gccaaccaga tacccataat
     2221 atctgccgaa catctgacta gccacaagta tgttacccag atgtagagct gtcgtcacaa
     2281 aacaatcata caaagaggaa aggacagtgt gcttgattag agtaaggacg acgtcattag
     2341 ccatattgta tataccgtca agcaacacat acaaaaatcc ctcagccaca agacatccac
     2401 atattgcatg ttaaccagaa gaaacgacaa catgggaacc tgctgcacac tgttgcctac
     2461 acactttgta cattcagttg gtatttgtgc tgaggtgata ttcctatcta aaacaacaac
     2521 attgtctttc ttttgtagca cagagttatg cattaaaata tgcatacgta attagtttcc
     2581 tatatattca tgccatcttg aaaagacaga ctatggtgtg accatgattc tattatgtat
     2641 tggtacgtct gtagaccaag atataatttt ttaaaaataa gtttatttct ttcaaggttt
     2701 acaagtaacc aaggtgcacc ttgtatttaa aatcgccgtt agagctgaga gcgcgcatgc
     2761 agagtcattt ttgtttgaga gtaatatttt tactgtaata gattgtacga catggtgagg
     2821 gagggaactg acagatgaat gtgccaagca aaaccacaac tgtgtatatt ttaaagcaca
     2881 ccatggcttt aagtaccatg ttgttaagga ttctcatgaa gtgccataga ctgtacatca
     2941 aattagagta ttatttcttc agtgttattg tttctggagc cacattttgt tgcttatttg
     3001 ctagtactaa tcaatcaaag ggcaccattc ttttcttttt tgtttttgaa accaaagctg
     3061 tctcagaaat ggccaattta actttacagt aacaatagac agcacaacac aaactcaata
     3121 cagataacct ttcacatact ggagatatat atgatagata tataaaatta ttttaatgca
     3181 ttgtagtgta atatttatgc atactctact atataacatg ttattcaaaa gggatatgcc
     3241 atttctgaga cacaataaca aaaaatgttt gaggaaatta ttttgcttct atttatagcc
     3301 tctgtcaaaa gtcaaaagac tataaatgct ttgcagaaat gggttcacgt ttgcttaaac
     3361 gcttcatcac agtcacattc aaaatagtga ctctaaacaa agagaacagc actgtcatca
     3421 gatgcatgat aaaccaaaat atgaaaatgg gaaatgttta attaacctag taattgggtg
     3481 ggttaagtac atgggtgaat tttatatgtg attcttttgt tcagattaac tgcttatagc
     3541 cttagaaagc cttttaaaaa attttaaaaa tagatgtgca ttcagttttt aagaatggat
     3601 tcatccaaag gaattcccct tttttgtggt ttggatgttg cagctaggaa aggctatttt
     3661 tgctctgttc agcagttcta aaatcgctga gtaggggcca ggtcactggc agttctagtg
     3721 tggaatggga gaagtgagag ttctgttata gaactttcca tacttccaag tttactgcaa
     3781 gtttttatgc ttgagagaga tgctttctaa tataagactg atgtgttgat tttcctgatt
     3841 gtactgtaca tctattaaag ccttagatta ttacattacg ggttggaacc cataccaatg
     3901 taatttcaat cgtgttaaga gagtaatggt gacttcacat gttattgtag ttagttacgt
     3961 tatagaatat tacttatttt tcttgttaaa atgtagtttt tcatttccta catttattgg
     4021 attttcattt tctattaaca gttgaatacc atttcagttt ttagactatt gttttattag
     4081 attttaccaa tgaatttttc aaaatacaaa aaaattaaag tagttttttc ttcataacat
     4141 actcagtttt aaattacatg tagtgtcata tgaatatccg tattattgtt aactaaatga
     4201 tttatatttt actgatttaa tattacagtg taagaatgtc agtcattgtt cttgtctagt
     4261 tttcattaaa agaacaaaga tcttttatat ggatatctta taaatatata atcattgcta
     4321 agtaagaagt taagttgttg ctatggcaac aatcctggca gacaattgag taatattttg
     4381 atgatttatt ttgtttgtaa ttagttatta tgagaagatc tagatcctag atattagaat
     4441 aaaatttatt ttctactgta tccatttcaa atgttaaagt attgtttaat atttttgaaa
     4501 tccctgaata tcaggccttg ttataaataa gctgcataat caataaatag aacaagggac
     4561 tttttgttga taatccaaat actcaaagtt tacgtaatga gaattttagc gtgtgtgcaa
     4621 actcttgagg gttgatgatg ctgcaattta gcatgttgga aagtctagag agaaggttga
     4681 ctttttgcac ttctgtatat agtcaaaaga gagaaacctg tataatagca agatcttatt
     4741 ttgaataaaa acgtctataa ttacaaggag ttttgttaag gctaatgaaa tgacagactg
     4801 agcaaaattg cttgcaaaag tggcacagag ttagcactcc atacccttca aacacgtcgc
     4861 tttgcttttt gtggacagct tgtagtttgc caggattttt cagctggaaa gatttgccat
     4921 ccttccaaga tctcatgact gacaaaactc cattgggcca aatctgcctg aagatcatta
     4981 ccaaaaaata gcaggtactt cagccactaa gatgaaatca tggatcagat atcccttaca
     5041 ttgttttcaa aactactgca tgtttaaaac ttcaacaaaa agagagaaag aactatgcta
     5101 aggacatata ttattcagat cgatatctac caatttcagt ggtttaatgt tcacaaaatg
     5161 aaatcttgaa aataactatt gactttcaca aaattttaac cataaacagg caaaccaaac
     5221 agcacacctg tagttgttct gtgattgttt tttaattgct gtagatcatg ttctttccgc
     5281 aggtggaaaa aaaaaaaaaa aaaaaaaaag aagttcaaat ttcacagttt taattttcaa
     5341 ctcagaagca aaagagcaaa atgtgacaat ggccacttgt ttaatgactt ggttgcccag
     5401 ctgtcactgc agctggctac tgatgttgca cttaccagca acccacccac cttcatctgc
     5461 cgaaaggaca gtgagcttgg ttttacgatt atgtaatcac aacttacttt ctgcttgtag
     5521 tggcttaaaa ttatgtattt tgtctagggc tgcaatttgt tttatgctta ctttattatt
     5581 actgcagtag ttgactttgc tgtatggaaa aataaagcga aattgcccta ataaaacttc
     5641 tctttcttaa gtataaaaaa aaaaaaaaaa aaa
//
